J Korean Med Sci.  2005 Jun;20(3):495-498. 10.3346/jkms.2005.20.3.495.

Association of Vitamin D Receptor Gene Polymorphism and Parkinson's Disease in Koreans

• Kim JS
• Kim YI
• Song C
• Yoon I
• Park JW
• Choi YB
• Kim HT
• Lee KS

• KMID: 1778513
• DOI: http://doi.org/10.3346/jkms.2005.20.3.495

Abstract

1alpha,25-dihydroxyvitamin D3 (1,25(OH)2D3), which is the biologically active form of vitamin D, has anti-inflammatory effects and can prevent experimental Parkinson's disease (PD). 1,25(OH)2D3 exerts most of its actions only after it binds to its specific nuclear receptors. Eighty-five Korean patients with PD and 231 unrelated healthy individuals were evaluated to determine if vitamin D receptor gene (VDRG) BsmI polymorphisms were markers for the susceptibility to PD in Korean patients. Each polymorphism was detected using polymerase chain reaction (PCR)-based restriction analysis. In addition, the relationship between the BsmI polymorphisms and the clinical manifestations of PD was evaluated. Overexpression of the b allele (91.2 vs. 85.7%; p=0.069) and homozygote bb (84.7 vs. 72.7%; p=0.043) was found in the PD patients compared with the controls. These results show for the first time an association between PD and a VDRG polymorphism, which might be involved in the pathogenesis of PD, or in the linkage disequilibrium of the VDRG to another pathogenic gene locus.

Keyword

Parkinson Disease; Vitamin D; Receptors, Calcitriol; Polymorphism, Genetic

MeSH Terms

Aged
Alleles
DNA/genetics/metabolism
Deoxyribonucleases, Type II Site-Specific/metabolism
Female
Gene Frequency
Genotype
Humans
Korea
Linkage Disequilibrium
Male
Middle Aged
Parkinson Disease/*genetics
*Polymorphism, Genetic
Receptors, Calcitriol/*genetics

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